ABOUT US
BACKGROUND
In 2004, the Maternal and Child Health Bureau of the Health Resources and Services Administration (MCHB/HRSA), Genetic Services Branch (GSB) awarded grants to establish seven Genetics and Newborn Screening Regional Collaborative Groups (RCs) and a National Coordinating Center (NCC) as part of on-going efforts to improve the health of children and their families by promoting the translation of genetic medicine into public health and health care services. The NCC is formed as a partnership with the GSB/MCHB/HRSA through a cooperative agreement with the American College of Medical Genetics (ACMG). The NCC is organized around a central office and an Advisory Committee. The Advisory Committee includes the seven RCs and representatives of national organizations that serve as resources to the NCC and the RCs.
GOALS OF THE REGIONAL COLLABORATIVE GROUPS AND THEIR NATIONAL COORDINATING CENTER
The RCs work to strengthen and support the genetics and newborn screening (NBS) capacity of the States, and therefore the Nation, using a regional approach to addressing maldistribution of genetic services and resources. A fundamental goal of the program is to bring services closer to local communities. The NCC enhances the activities of the seven RCs by providing the infrastructure, coordination, technical assistance and resources necessary to address issues of universal importance, thereby avoiding duplication of efforts and allowing the regions to focus on their unique areas of need. The NCC also facilitates local projects, and uses communities identified through the RCs to pilot test materials for policymakers, health professionals and families.
NCC ACTIVITIES
Workgroup Initiatives comprise the current work of the NCC, and involve members of the RCs as well as outside partners.
1. Genetics Infrastructure Development and Needs. It is important for the RCs to maintain a network of genetic service and other subspecialty care (e.g., hemoglobinopathies, endocrinopathies) providers who are available and experienced in the diagnosis and management of the infants with conditions detected in newborn screening programs. Using a three-pronged approach, this workgroup is examining issues of access to high quality services and gaps in the availability of services and providers, patient pathways, and workforce capacity. This project will result in a national provider network directory that the RCs can supplement to meet local needs.
2. Building the Business Case for Genetic Services. Multiple RCs identified the need to document and establish the value of genetic services to health and prevention in order to enhance their ability to fund these services. Such data will inform communication with decision makers, such as legislators, health care insurers and training centers. Two aspects of establishing the business case are demonstrating the value of genetic services in general and the value that those specifically trained and experienced in genetic medicine bring to the quality of the service delivered.
3. Management Guidelines. The development of clinical genetics and newborn screening management guidelines for specialists and primary care providers is a shared need of the RCs. Ongoing projects developing these materials include a GSB/MCHB/HRSA-funded ACMG workgroup that has prepared ACTion (ACT) sheets for primary care providers in the area of newborn screening. These have been pilot tested and are now available to state NBS programs, NBS laboratories, family physicians, pediatricians, the state programs, as well as the RCs. Confirmatory algorithms describing the laboratory and clinical follow-up of infants identified as screen positive in programs are also available and the ACMG is assessing other ways to minimize the transfer of false positive cases into the follow-up system. These three NCC activities will bridge the activities of the newborn screening laboratories to the diagnostic service providers, and will engage the RCs. Finally, the RCs are being surveyed to determine the management guidelines most needed for the delivery of genetic services, and these will be developed collaboratively with the ACMG and the NCC Resource Partners.
4. Improving Disease Information to Improve Decision-Making in Genetics and Newborn Screening. Projects of regional and national significance that seek to collect data about tests, testing and inherited diseases, in order to improve decision-making, are being pursued. Better knowledge of the implications of test results in patients can improve testing, and better knowledge about diseases can inform future decisions about screening, diagnosis and management of the diseases. One project seeks to leverage existing support from the NIH Office of Rare Disease to create Rare Disease Centers (RDC), several of which are focused on genetic diseases and conditions that are or may become part of newborn screening programs. A goal of the RDC is to aggregate large numbers of patients into a registry through which natural history information can be gathered, both as it relates to disease and to treatment response. Identifying mechanisms for linking patients found in newborn screening programs to these centers will improve outcomes and contribute to the collection of important information. Other efforts are directed at collecting data from short and long-term follow-up of individuals identified in newborn screening programs. This workgroup will evaluate the various data collection programs and opportunities that are available in states or nationally, in order to determine those of greatest interest to the RCs in reaching their goals.
NCC STAFF
Michael Watson, PhD
Project Investigator, mwatson@acmg.net
Judith Benkendorf, MS, CGC
Project Director, jbenkendorf@acmg.net
Alisha S. Keehn, MPA
Project Manager, akeehn@acmg.net
CONTACT INFORMATION
For information concerning diagnosis, treatment, and counseling for a specific disease, please contact your healthcare provider.
Questions about NCC scheduling or activities may be directed to
Alisha Keehn, MPA at akeehn@acmg.net
Comments or suggestions about the website may be directed to
ncc@nccrcg.org
For general information about the NCC please contact us at:
National Coordinating Center for the Regional Genetic and
Newborn Screening Service Collaboratives
c/o American College of Medical Genetics
7220 Wisconsin Avenue, Suite 300
Bethesda, MD 20814
Phone: (301) 718-9603
Fax: (301) 718-9604
